Direct fluorescent labelling of clones by DOP PCR

by Backx, Liesbeth, Thoelen, Reinhilde, Van Esch, Hilde, Vermeesch, Joris R
Published 2008

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

by Backx, Liesbeth, Ceulemans, Berten, Vermeesch, Joris Robert, Devriendt, Koen, Van Esch, Hilde
Published 2009

A homozygous deletion of exon 1 in WISP3 causes progressive pseudorheumatoid dysplasia in two siblings

by Neerinckx, Barbara, Thues, Cedric, Wouters, Carine, Lechner, Sarah, Westhovens, Rene, Van Esch, Hilde
Published in Hum Genome Var (2015)

Novel CASK mutations in cases with syndromic microcephaly

by Cristofoli, Francesca, Devriendt, Koen, Davis, Erica E., Van Esch, Hilde, Vermeesch, Joris R.
Published in Hum Mutat (2018)

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

by Zablotskaya, Alena, Van Esch, Hilde, Verstrepen, Kevin J., Froyen, Guy, Vermeesch, Joris R.
Published in BMC Med Genomics (2018)

Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening

by Cristofoli, Francesca, De Keersmaecker, Bart, De Catte, Luc, Vermeesch, Joris R., Van Esch, Hilde
Published in Mol Syndromol (2017)

Network Analysis of Differential Expression for the Identification of Disease-Causing Genes

by Nitsch, Daniela, Tranchevent, Léon-Charles, Thienpont, Bernard, Thorrez, Lieven, Van Esch, Hilde, Devriendt, Koenraad, Moreau, Yves
Published 2009

Optic Nerve Hypoplasia Is a Pervasive Subcortical Pathology of Visual System in Neonates

by Liang, Chen, Kerr, Alicia, Qiu, Yangfengzhong, Cristofoli, Francesca, Van Esch, Hilde, Fox, Michael A., Mukherjee, Konark
Published in Invest Ophthalmol Vis Sci (2017)

A Y328C missense mutation in spermine synthase causes a mild form of Snyder–Robinson syndrome

by Zhang, Zhe, Norris, Joy, Kalscheuer, Vera, Wood, Tim, Wang, Lin, Schwartz, Charles, Alexov, Emil, Van Esch, Hilde
Published 2013

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience

by Ardui, Simon, Race, Valerie, de Ravel, Thomy, Van Esch, Hilde, Devriendt, Koenraad, Matthijs, Gert, Vermeesch, Joris R.
Published in Front Genet (2018)

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

by Brady, Paul D, Van Esch, Hilde, Fieremans, Nathalie, Froyen, Guy, Slavotinek, Anne, Deprest, Jan, Devriendt, Koenraad, Vermeesch, Joris R
Published in Eur J Hum Genet (2015)

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

by Isrie, Mala, Hendriks, Yvonne, Gielissen, Nicole, Sistermans, Erik A, Willemsen, Marjolein H, Peeters, Hilde, Vermeesch, Joris R, Kleefstra, Tjitske, Van Esch, Hilde
Published 2012

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

by Siekierska, Aleksandra, Isrie, Mala, Liu, Yue, Scheldeman, Chloë, Vanthillo, Niels, Lagae, Lieven, de Witte, Peter A.M., Van Esch, Hilde, Goldfarb, Mitchell, Buyse, Gunnar M.
Published in Neurology (2016)

A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders

by Bashiardes, Stavros, Kousoulidou, Ludmila, van Bokhoven, Hans, Ropers, Hans-Hilger, Chelly, Jamel, Moraine, Claude, de Brouwer, Arjan P.M., Van Esch, Hilde, Froyen, Guy, Patsalis, Philippos C.
Published 2009

A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function

by Okray, Zeynep, de Esch, Celine EF, Van Esch, Hilde, Devriendt, Koen, Claeys, Annelies, Yan, Jiekun, Verbeeck, Jelle, Froyen, Guy, Willemsen, Rob, de Vrij, Femke MS, Hassan, Bassem A
Published in EMBO Mol Med (2015)

Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation

by Tao, Jiong, Van Esch, Hilde, Hagedorn-Greiwe, M., Hoffmann, Kirsten, Moser, Bettina, Raynaud, Martine, Sperner, Jürgen, Fryns, Jean-Pierre, Schwinger, Eberhard, Gécz, Jozef, Ropers, Hans-Hilger, Kalscheuer, Vera M.
Published 2004

MAPRE2 mutations result in altered human cranial neural crest migration, underlying craniofacial malformations in CSC-KT syndrome

by Thues, Cedric, Valadas, Jorge S., Deaulmerie, Liesbeth, Geens, Ann, Chouhan, Amit K., Duran-Romaña, Ramon, Schymkowitz, Joost, Rousseau, Frederic, Bartusel, Michaela, Rehimi, Rizwan, Rada-Iglesias, Alvaro, Verstreken, Patrik, Van Esch, Hilde
Published in Sci Rep (2021)

Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

by Van Esch, Hilde , Bauters, Marijke , Ignatius, Jaakko , Jansen, Mieke , Raynaud, Martine , Hollanders, Karen , Lugtenberg, Dorien , Bienvenu, Thierry , Jensen, Lars Riff , Gécz, Jozef , Moraine, Claude , Marynen, Peter , Fryns, Jean-Pierre , Froyen, Guy 
Published 2005

NF-κB signalling requirement for brain myelin formation is shown by genotype/MRI phenotype correlations in patients with Xq28 duplications

by Philippe, Orianne, Rio, Marlène, Malan, Valérie, Van Esch, Hilde, Baujat, Geneviève, Bahi-Buisson, Nadia, Valayannopoulos, Vassili, Gesny, Roseline, Bonnefont, Jean-Paul, Munnich, Arnold, Froyen, Guy, Amiel, Jeanne, Boddaert, Nathalie, Colleaux, Laurence
Published 2013

Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

by Vandewalle, Joke, Van Esch, Hilde, Govaerts, Karen, Verbeeck, Jelle, Zweier, Christiane, Madrigal, Irene, Mila, Montserrat, Pijkels, Elly, Fernandez, Isabel, Kohlhase, Jürgen, Spaich, Christiane, Rauch, Anita, Fryns, Jean-Pierre, Marynen, Peter, Froyen, Guy
Published 2009